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De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation

BACKGROUND: Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses dif...

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Detalles Bibliográficos
Autores principales: Wang, Shuling, Niu, Ziru, Wang, Hui, Ma, Minyue, Zhang, Wei, Wang, Shu Fang, Wang, Jun, Yan, Hong, Liu, Yifan, Duan, Na, Zhang, Xiandong, Yao, Yuanqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498129/
https://www.ncbi.nlm.nih.gov/pubmed/28650953
http://dx.doi.org/10.12659/MSM.904546

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